Plasma levels of amyloid β 40 and 42 are independent from ApoE genotype and mental retardation in down syndrome

Simona Cavani, Akira Tamaoka, Aldo Moretti, Lucio Marinelli, Giovanna Angelini, Sara Di Stefano, Giuseppe Piombo, Virginia Cazzulo, Sayoko Matsuno, Shin'ichi Shoji, Yoshiko Furiya, Damiano Zaccheo, Francesca Dagna-Bricarelli, Massimo Tabaton, Hiroshi Mori

Research output: Contribution to journalArticlepeer-review


In Down syndrome (DS) brain an early, selective accumulation of amyloid β (Aβ) peptides ending at residue 42 (Aβ42) occurs. Whether this event depends on an altered processing of amyloid beta precursor prorein (APP) or on defective clearance is uncertain. To investigate this issue, we measured Aβ species 40 and 42 in plasma from 61 patients with DS, 77 age-matched normal controls, and 55 mentally retarded subjects without chromosomal abnormalities. The Aβ 40 and 42 plasma levels were then correlated with apolipoprotein E (apoE) genotypes in all groups of cases, and with I.Q. and Mini Mental Status Examination values in DS subjects. Both Aβ species were significantly elevated in DS compared to control groups, and the extent of their increase reflects that expected from APP gene overexpression. Plasma levels of Aβ 40 and 42 did not correlate with apoE genotypes in DS and control cases, and with the extent of mental retardation in DS subjects. The results indicate that accumulation and clearance of plasma and cerebral Aβ are regulated by different and independent factors. (C) 2000 Wiley-Liss, Inc.

Original languageEnglish
Pages (from-to)224-228
Number of pages5
JournalAmerican Journal of Medical Genetics
Issue number3
Publication statusPublished - Nov 27 2000


  • Amyloid β-protein
  • Apolipoprotein E
  • Biological fluids
  • Down syndrome
  • Plasma

ASJC Scopus subject areas

  • Genetics(clinical)


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